Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R350fs
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RECQL4

NM_004260.4:p.R350fs

Associated Papers

A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.

Němejcová K et al.

Virchows Archiv : an International Journal of Pathology, 2025

39592485 (PubMed )
Supplement: 428_2024_3984_MOESM3_ESM.xlsx › all_detected_pathogenic_m.

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Taniguchi K et al.

Molecular Genetics & Genomic Medicine, 2025

40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_1

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Kanai Y et al.

American Journal of Medical Genetics. Part A, 2025

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3
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